Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1964 1
2018 2
2019 1
2020 4
2021 1
2022 3
2023 2
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

14 results

Results by year

Filters applied: . Clear all
Page 1
Management of pyruvate kinase deficiency in children and adults.
Grace RF, Barcellini W. Grace RF, et al. Blood. 2020 Sep 10;136(11):1241-1249. doi: 10.1182/blood.2019000945. Blood. 2020. PMID: 32702739 Free article. Review.
As these disease-directed therapies are approved for clinical use, clinicians will need to define the types of symptoms and findings that determine the optimal patients and timing for initiating these therapies. In this article, we highlight disease manifestations, …
As these disease-directed therapies are approved for clinical use, clinicians will need to define the types of symptoms and findings …
Diagnosis, monitoring, and management of pyruvate kinase deficiency in children.
Johnson S, Grace RF, Despotovic JM. Johnson S, et al. Pediatr Blood Cancer. 2022 Aug;69(8):e29696. doi: 10.1002/pbc.29696. Epub 2022 Apr 22. Pediatr Blood Cancer. 2022. PMID: 35452178 Review.
Similarly, management of primary and secondary sequelae of PK deficiency varies, mainly including supportive care with transfusions and surgical interventions to improve symptoms and quality of life. ...Therefore, all children and adolescents with PK deficiency should rece …
Similarly, management of primary and secondary sequelae of PK deficiency varies, mainly including supportive care with transfusions a …
Diagnosis and management of pyruvate kinase deficiency: international expert guidelines.
Al-Samkari H, Shehata N, Lang-Robertson K, Bianchi P, Glenthøj A, Sheth S, Neufeld EJ, Rees DC, Chonat S, Kuo KHM, Rothman JA, Barcellini W, van Beers EJ, Pospíšilová D, Shah AJ, van Wijk R, Glader B, Mañú Pereira MDM, Andres O, Kalfa TA, Eber SW, Gallagher PG, Kwiatkowski JL, Galacteros F, Lander C, Watson A, Elbard R, Peereboom D, Grace RF. Al-Samkari H, et al. Lancet Haematol. 2024 Mar;11(3):e228-e239. doi: 10.1016/S2352-3026(23)00377-0. Epub 2024 Feb 5. Lancet Haematol. 2024. PMID: 38330977 Review.
The goal of the International Guidelines for the Diagnosis and Management of Pyruvate Kinase Deficiency was to develop evidence-based guidelines for the clinical care of patients with PK deficiency. These clinical guidelines were developed by use of GRADE methodology and t …
The goal of the International Guidelines for the Diagnosis and Management of Pyruvate Kinase Deficiency was to develop evidence-based guidel …
Consensus document for the diagnosis and treatment of pyruvate kinase deficiency.
Morado M, Villegas AM, de la Iglesia S, Martínez-Nieto J, Del Orbe Barreto R, Beneitez D, Salido E; en representación del Grupo Español de Eritropatología. Morado M, et al. Med Clin (Barc). 2021 Sep 10;157(5):253.e1-253.e8. doi: 10.1016/j.medcli.2020.10.018. Epub 2021 Jan 9. Med Clin (Barc). 2021. PMID: 33431182 English, Spanish.
Nowadays, allogeneic hematopoietic stem cell transplantation is the only curative treatment, recommended only in selected cases of severely affected patients with an HLA-identical donor. Novel pharmacological and gene therapies are in clinical trials, with promising result …
Nowadays, allogeneic hematopoietic stem cell transplantation is the only curative treatment, recommended only in selected cases of severely …
Pyruvate kinase activators for treatment of pyruvate kinase deficiency.
Grace RF. Grace RF. Hematology Am Soc Hematol Educ Program. 2023 Dec 8;2023(1):97-106. doi: 10.1182/hematology.2023000466. Hematology Am Soc Hematol Educ Program. 2023. PMID: 38066940 Free PMC article.
In addition to disease-modifying treatment with PK activators, gene therapy is a potentially curative treatment currently under evaluation in clinical trials. With the availability of disease-targeted therapies, accurately diagnosing PK deficiency in patients with c …
In addition to disease-modifying treatment with PK activators, gene therapy is a potentially curative treatment currently under evalu …
Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency.
Bianchi P, Fermo E, Lezon-Geyda K, van Beers EJ, Morton HD, Barcellini W, Glader B, Chonat S, Ravindranath Y, Newburger PE, Kollmar N, Despotovic JM, Verhovsek M, Sharma M, Kwiatkowski JL, Kuo KHM, Wlodarski MW, Yaish HM, Holzhauer S, Wang H, Kunz J, Addonizio K, Al-Sayegh H, London WB, Andres O, van Wijk R, Gallagher PG, Grace RFF. Bianchi P, et al. Am J Hematol. 2020 May;95(5):472-482. doi: 10.1002/ajh.25753. Epub 2020 Mar 6. Am J Hematol. 2020. PMID: 32043619 Free PMC article.
The variable manifestations of disease in pyruvate kinase deficiency and their management.
Al-Samkari H, Van Beers EJ, Kuo KHM, Barcellini W, Bianchi P, Glenthøj A, Del Mar Mañú Pereira M, Van Wijk R, Glader B, Grace RF. Al-Samkari H, et al. Haematologica. 2020 Sep 1;105(9):2229-2239. doi: 10.3324/haematol.2019.240846. Haematologica. 2020. PMID: 33054048 Free PMC article.
The decision to perform splenectomy or hematopoietic stem cell transplantation is nuanced and depends on disease burden and long-term outlook given that targeted therapeutics are in development. In recognition of the complicated nature of the disease and its management and …
The decision to perform splenectomy or hematopoietic stem cell transplantation is nuanced and depends on disease burden and long-term outloo …
Clinical outcome and genotype analysis of four Chinese children with pyruvate kinase deficiency.
Xie F, Gan L, Lei L, Cai T, Gao Y, Liu X, Cai B, Zhou L. Xie F, et al. Mol Genet Genomic Med. 2023 Nov;11(11):e2239. doi: 10.1002/mgg3.2239. Epub 2023 Jul 19. Mol Genet Genomic Med. 2023. PMID: 37466302 Free PMC article.
The PKLR gene mutations found in these children with PKD can provide references for further research of the genetic characteristics of PKD and subsequent gene therapy....
The PKLR gene mutations found in these children with PKD can provide references for further research of the genetic characteristics of PKD a …
An evaluation of mitapivat for the treatment of hemolytic anemia in adults with pyruvate kinase deficiency.
Song AB, Al-Samkari H. Song AB, et al. Expert Rev Hematol. 2022 Oct;15(10):875-885. doi: 10.1080/17474086.2022.2125865. Epub 2022 Sep 22. Expert Rev Hematol. 2022. PMID: 36124781
EXPERT OPINION: Mitapivat is a first-in-class allosteric activator of pyruvate kinase and the first FDA-approved disease directed therapy for PKD. It has a favorable safety profile and clear clinical efficacy. Given the considerable genetic heterogeneity of PKD and the rap …
EXPERT OPINION: Mitapivat is a first-in-class allosteric activator of pyruvate kinase and the first FDA-approved disease directed therapy …
14 results